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Cancer Genetics Case Studies. http://www.cancergenetics.org/medcase2.htm. For some childhood cancers, like retinoblastoma, up to 40% of patients may have inherited a predisposing gene. However, in general, only approximately 5-10% of all cancers result directly from hereditary factors.
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Cancer Genetics Case Studies http://www.cancergenetics.org/medcase2.htm
For some childhood cancers, like retinoblastoma, up to 40% of patients may have inherited a predisposing gene. However, in general, only approximately 5-10% of all cancers result directly from hereditary factors.
Retinoblastoma p53 Mutations Linked with Li-Fraumeni Syndrome Familial Colorectal Cancer familial adenomatous polyposis (FAP) Wilms' Tumor Breast and Ovarian Cancer
Some Currently Available DNA-Based Gene Tests Alpha-1-antitrypsin deficiency (AAT; emphysema and liver disease) Amyotrophic lateral sclerosis (ALS; Lou Gehrig's Disease; progressive motor function loss leading to paralysis and death) Alzheimer's disease* (APOE; late-onset variety of senile dementia) Ataxia telangiectasia (AT; progressive brain disorder resulting in loss of muscle control and cancers)
Blackett Family DNA Activity http://www.biology.arizona.edu/human_bio/activities/Blackett/introduction.html
Have several close family members been affected by cancer? Has cancer occurred at an unusually young age in your family? Has anyone in your family had more than one cancer (such as breast and colon, or both breasts)? Are there unusual or rare types of cancer in your family?
Gaucher disease (GD; enlarged liver and spleen, bone degeneration) Inherited breast and ovarian cancer* (BRCA 1 and 2; early-onset tumors of breasts and ovaries) Hereditary nonpolyposis colon cancer* (CA; early-onset tumors of colon and sometimes other organs) Charcot-Marie-Tooth (CMT; loss of feeling in ends of limbs) Congenital adrenal hyperplasia (CAH; hormone deficiency; ambiguous genitalia and male pseudohermaphroditism) Cystic fibrosis (CF; disease of lung and pancreas resulting in thick mucous accumulations and chronic infections) Duchenne muscular dystrophy/Becker muscular dystrophy (DMD; severe to mild muscle wasting, deterioration, weakness) Dystonia (DYT; muscle rigidity, repetitive twisting movements) Fanconi anemia, group C (FA; anemia, leukemia, skeletal deformities) Factor V-Leiden (FVL; blood-clotting disorder) Fragile X syndrome (FRAX; leading cause of inherited mental retardation) Hemophilia A and B (HEMA and HEMB; bleeding disorders) Huntington's disease (HD; usually midlife onset; progressive, lethal, degenerative neurological disease) Myotonic dystrophy (MD; progressive muscle weakness; most common form of adult muscular dystrophy) Neurofibromatosis type 1 (NF1; multiple benign nervous system tumors that can be disfiguring; cancers) Phenylketonuria (PKU; progressive mental retardation due to missing enzyme; correctable by diet) Adult Polycystic Kidney Disease (APKD; kidney failure and liver disease) Prader Willi/Angelman syndromes (PW/A; decreased motor skills, cognitive impairment, early death) Sickle cell disease (SS; blood cell disorder; chronic pain and infections) Spinocerebellar ataxia, type 1 (SCA1; involuntary muscle movements, reflex disorders, explosive speech) Spinal muscular atrophy (SMA; severe, usually lethal progressive muscle-wasting disorder in children) Thalassemias (THAL; anemias - reduced red blood cell levels) Tay-Sachs Disease (TS; fatal neurological disease of early childhood; seizures, paralysis) [3/99]
Genetic screening is now available for breast,ovarian, colon, prostate and some skin cancers.
